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1. Full Text MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
by Barbier, Mathieu and Gross, Marie-Sylvie and Aubart, Mélodie and Hanna, Nadine and Kessler, Ketty and Guo, Dong-Chuan and Tosolini, Laurent and Ho-Tin-Noe, Benoit and Regalado, Ellen and Varret, Mathilde and Abifadel, Marianne and Milleron, Olivier and Odent, Sylvie and Dupuis-Girod, Sophie and Faivre, Laurence and Edouard, Thomas and Dulac, Yves and Busa, Tiffany and Gouya, Laurent and Milewicz, Dianna M and Jondeau, Guillaume and Boileau, Catherine
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 736 - 743
Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Contractile Proteins - genetics | Humans | Middle Aged | Glycoproteins - metabolism | Male | Aneurysm, Dissecting - physiopathology | Aged, 80 and over | Fibroblasts | Adult | Female | Contractile Proteins - metabolism | Child | Glycoproteins - genetics | Haploinsufficiency - genetics | Intercellular Signaling Peptides and Proteins | Codon, Nonsense | Sequence Analysis, DNA | Aortic Aneurysm, Thoracic - physiopathology | Exome - genetics | Pedigree | Adolescent | Aged | Amino Acid Substitution | Genetic research | Aortic aneurysms | Genetic aspects | Research | Gene mutations | Aneurysms | Genetics | Mutation | Pathogenesis | Dissection | Cells | Index Medicus | Report
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2. Full Text Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
by Poirier, Karine and Keays, David A and Francis, Fiona and Saillour, Yoann and Bahi, Nadia and Manouvrier, Sylvie and Fallet‐Bianco, Catherine and Pasquier, Laurent and Toutain, Annick and Tuy, Françoise Phan Dinh and Bienvenu, Thierry and Joriot, Sylvie and Odent, Sylvie and Ville, Dorothée and Desguerre, Isabelle and Goldenberg, Alice and Moutard, Marie‐Laure and Fryns, Jean‐Pierre and van Esch, Hilde and Harvey, Robert J and Siebold, Christian and Flint, Jonathan and Beldjord, Chérif and Chelly, Jamel
Human mutation, ISSN 1059-7794, 11/2007, Volume 28, Issue 11, pp. 1055 - 1064
epilepsy | mental retardation | lissencephaly | TUBA1A | TUBA3 | neuronal migration | Neuronal migration | Lissencephaly | Mental retardation | Epilepsy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | DNA - genetics | Brain - embryology | Phenotype | In Situ Hybridization | Humans | RNA, Messenger - genetics | Brain Diseases - genetics | Polymerase Chain Reaction | Tubulin - genetics | Brain - abnormalities | Mutation, Missense | Index Medicus
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3. Full Text Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
by Liu, Hui and Giguet‐Valard, Anna‐Gaëlle and Simonet, Thomas and Szenker‐Ravi, Emmanuelle and Lambert, Laetitia and Vincent‐Delorme, Catherine and Scheidecker, Sophie and Fradin, Mélanie and Morice‐Picard, Fanny and Naudion, Sophie and Ciorna‐Monferrato, Viorica and Colin, Estelle and Fellmann, Florence and Blesson, Sophie and Jouk, Pierre‐Simon and Francannet, Christine and Petit, Florence and Moutton, Sébastien and Lehalle, Daphné and Chassaing, Nicolas and El Zein, Loubna and Bazin, Anne and Bénéteau, Claire and Attié‐Bitach, Tania and Hanu, Sylvie M and Brechard, Marie‐Pierre and Chiesa, Jean and Pasquier, Laurent and Rooryck‐Thambo, Caroline and Van Maldergem, Lionel and Cabrol, Christelle and El Chehadeh, Salima and Vasiljevic, Alexandre and Isidor, Bertrand and Abel, Carine and Thevenon, Julien and Di Filippo, Sylvie and Vigouroux‐Castera, Adeline and Attia, Jocelyne and Quelin, Chloé and Odent, Sylvie and Piard, Juliette and Giuliano, Fabienne and Putoux, Audrey and Khau Van Kien, Philippe and Yardin, Catherine and Touraine, Renaud and Reversade, Bruno and Bouvagnet, Patrice
Human mutation, ISSN 1059-7794, 12/2020, Volume 41, Issue 12, pp. 2167 - 2178
midline anomaly | consanguinity | fetus | next‐generation sequencing | heterotaxy | congenital heart defects | next-generation sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital heart disease | Genetic disorders | Coronary heart disease | Medical genetics | Cytogenetics | Heredity | Consanguinity | Genetic counseling | Hedgehog protein | Fetuses | Index Medicus
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4. Full Text Primal health research in the age of epigenetic clocks
by Odent, Sylvie and Odent, Michel
Medical hypotheses, ISSN 0306-9877, 12/2019, Volume 133, pp. 109403 - 109403
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Index Medicus | Life Sciences
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5. Full Text 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency
by Jaillard, Sylvie and Tucker, Elena J and Akloul, Linda and Beaumont, Marion and Domin, Mathilde and Pasquier, Laurent and Jouve, Guilhem and Odent, Sylvie and Belaud-Rotureau, Marc-Antoine and Ravel, Célia
Journal of human genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 691 - 698
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes | DNA methylation | Ovaries | Follicles | Oocytes | Genetic screening | Polymorphism | Index Medicus | Life Sciences | Health | Ecology, environment
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6. Full Text Role of genetics in the etiology of autistic spectrum disorder: Towards a hierarchical diagnostic strategy
by Robert, Cyrille and Pasquier, Laurent and Cohen, David and Fradin, Mélanie and Canitano, Roberto and Damaj, Léna and Odent, Sylvie and Tordjman, Sylvie
International journal of molecular sciences, ISSN 1661-6596, 03/2017, Volume 18, Issue 3, pp. 618 - 618
Autism | Child psychiatric and psychological assessment | Hierarchical diagnostic strategy | Clinical genetics | Genetic disorders | Neuropediatric evaluation | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Autism Spectrum Disorder - diagnosis | Index Medicus | Life Sciences | Human health and pathology | hierarchical diagnostic strategy | genetic disorders | autism | clinical genetics | neuropediatric evaluation | child psychiatric and psychological assessment
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7. Full Text Non‐USH2A mutations in USH2 patients
by Besnard, Thomas and Vaché, Christel and Baux, David and Larrieu, Lise and Abadie, Caroline and Blanchet, Catherine and Odent, Sylvie and Blanchet, Patricia and Calvas, Patrick and Hamel, Christian and Dollfus, Hélène and Lina‐Granade, Geneviève and Lespinasse, James and David, Albert and Isidor, Bertrand and Morin, Gilles and Malcolm, Sue and Tuffery‐Giraud, Sylvie and Claustres, Mireille and Roux, Anne‐Françoise
Human mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 504 - 510
DFNB31 | molecular analysis | Usher syndrome | GPR98 | functional analysis | Molecular analysis | Functional analysis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Usher Syndromes - genetics | Membrane Proteins - genetics | Extracellular Matrix Proteins - genetics | Humans | Polymerase Chain Reaction | Receptors, G-Protein-Coupled - genetics | Mutation | Index Medicus | Life Sciences | Human health and pathology | Genetics | Sensory Organs
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8. Full Text Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations
by Snanoudj, Sarah and Molin, Arnaud and Colson, Cindy and Coudray, Nadia and Paulien, Sylvie and Mittre, Hervé and Gérard, Marion and Schaefer, Elise and Goldenberg, Alice and Bacchetta, Justine and Odent, Sylvie and Naudion, Sophie and Demeer, Bénédicte and Faivre, Laurence and Gruchy, Nicolas and Kottler, Marie‐Laure and Richard, Nicolas
Journal of bone and mineral research, ISSN 0884-0431, 05/2020, Volume 35, Issue 5, pp. 913 - 919
PHP1A | PSEUDOHYPOPARATHYROIDISM | POH | GNAS | MUTATIONS | PPHP | TRANSMISSION RATIO DISTORTION | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Phenotypes | Population studies | Heredity | Guanine nucleotide-binding protein | Guanine | Sex ratio | Progeny | Embryogenesis | Genetic counseling | Osteodystrophy | Parathyroid hormone | Fertility | Pseudohypoparathyroidism | Alleles | Mutation | Genotypes | Index Medicus | Life Sciences | Genetics | Human genetics
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9. Full Text A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
by Prasad, Megana K and Geoffroy, Véronique and Vicaire, Serge and Jost, Bernard and Dumas, Michael and Le Gras, Stéphanie and Switala, Marzena and Gasse, Barbara and Laugel-Haushalter, Virginie and Paschaki, Marie and Leheup, Bruno and Droz, Dominique and Dalstein, Amelie and Loing, Adeline and Grollemund, Bruno and Muller-Bolla, Michèle and Lopez-Cazaux, Séréna and Minoux, Maryline and Jung, Sophie and Obry, Frédéric and Vogt, Vincent and Davideau, Jean-Luc and Davit-Beal, Tiphaine and Kaiser, Anne-Sophie and Moog, Ute and Richard, Béatrice and Morrier, Jean-Jacques and Duprez, Jean-Pierre and Odent, Sylvie and Bailleul-Forestier, Isabelle and Rousset, Monique Marie and Merametdijan, Laure and Toutain, Annick and Joseph, Clara and Giuliano, Fabienne and Dahlet, Jean-Christophe and Courval, Aymeric and El Alloussi, Mustapha and Laouina, Samir and Soskin, Sylvie and Guffon, Nathalie and Dieux, Anne and Doray, Bérénice and Feierabend, Stephanie and Ginglinger, Emmanuelle and Fournier, Benjamin and de la Dure Molla, Muriel and Alembik, Yves and Tardieu, Corinne and Clauss, François and Berdal, Ariane and Stoetzel, Corinne and Manière, Marie Cécile and Dollfus, Hélène and Bloch-Zupan, Agnès
Journal of medical genetics, ISSN 0022-2593, 02/2016, Volume 53, Issue 2, pp. 98 - 110
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Reproducibility of Results | Tooth Abnormalities - genetics | Dentin Dysplasia - genetics | Humans | Coloboma - genetics | Non-Fibrillar Collagens - genetics | Chromosomes, Human, Pair 11 - genetics | Hearing Loss, Sensorineural - genetics | Amelogenesis Imperfecta - genetics | Autoantigens - genetics | Mutation | France | High-Throughput Nucleotide Sequencing - methods | Chromosome Disorders - genetics | Cohort Studies | Usage | Genetic disorders | Nucleotide sequencing | Diagnosis | Risk factors | DNA sequencing | Databases | Disease | Laboratories | Genomes | Patients | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences | counselling | Diagnostics tests | Molecular genetics | Genetics | Genome-wide | 1506 | Methods | Genetic screening
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